Results 291 to 300 of about 92,601 (353)

Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant

open access: yesPediatric Blood &Cancer, Volume 72, Issue 9, September 2025.
ABSTRACT Introduction SMARCA4 is a known susceptibility gene for malignant rhabdoid tumors (MRT) in children and small cell carcinoma of the ovary hypercalcemic type (SCCOHT) in young females and women. Recently, a novel association between germline SMARCA4 variants and predisposition to neuroblastoma was proposed.
Nienke van Engelen   +12 more
wiley   +1 more source

Nervonic acid, a long chain monounsaturated fatty acid, improves mitochondrial function in adrenomyeloneuropathy fibroblasts

open access: yesBritish Journal of Pharmacology, Volume 182, Issue 17, Page 4134-4146, September 2025.
Abstract Background and Purpose Nervonic acid plays a vital role in maintaining normal brain and neuronal function. Nervonic acid has gained increasing attention because of its potential neuroprotective and anti‐inflammatory properties. Nonetheless, the beneficial effects of nervonic acid are yet to be fully investigated. Adrenomyeloneuropathy (AMN), a
Chenxu Li   +2 more
wiley   +1 more source

NEW-ONSET PRIMARY ADRENAL INSUFFICIENCY AFTER COVID-19: CASE REPORT. [PDF]

open access: yesActa Endocrinol (Buchar)
Kayhan Y   +4 more
europepmc   +1 more source

Delayed Bone Maturation and Extended Growth Phase as Distinctive Features of 17α‐Hydroxylase/17,20‐Lyase Deficiency: A Retro‐Prospective Study of a Large Patient Cohort

open access: yesClinical Endocrinology, Volume 103, Issue 3, Page 303-310, September 2025.
ABSTRACT Introduction Worldwide, combined 17‐hydroxylase/17,20‐lyase deficiency (CYP17D) is a rare form of congenital adrenal hyperplasia, but it is the second most prevalent type in Brazil. An absence of sexual differentiation and hypergonadotropic hypogonadism arise from a reduction in the usual pattern of sex steroid formation in the adrenals and ...
Rafaela Fontenele   +9 more
wiley   +1 more source

Switching Patients With Congenital Adrenal Hyperplasia to Modified‐Release Hydrocortisone Capsules: Relative Bioavailability and Disease Control

open access: yesClinical Endocrinology, Volume 103, Issue 3, Page 290-293, September 2025.
ABSTRACT Background Replacement therapy with modified‐release hydrocortisone capsules (MRHC) restores the physiological circadian cortisol rhythm in congenital adrenal hyperplasia (CAH). Aims To determine the relative bioavailability of MRHC and evaluate an optimal protocol to switch CAH patients from standard therapy to MRHC.
Richard John M. Ross   +15 more
wiley   +1 more source

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